Canonical Allele Identifier: CA2324749850
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191796A= , CM000681.2:g.15191796A= GRCh38
NC_000019.9:g.15302607A= , CM000681.1:g.15302607A= GRCh37
NC_000019.8:g.15163607A= NCBI36
NG_009819.1:g.14186T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.751T= MANE Select ENSP00000263388.1:p.Cys251=
ENST00000263388.6:c.751T= ENSP00000263388.1:p.Cys251=
ENST00000601011.1:c.748T= ENSP00000473138.1:p.Cys250=
NM_000435.2:c.751T= NP_000426.2:p.Cys251=
XM_005259924.3:c.751T= XP_005259981.1:p.Cys251=
XM_005259924.4:c.751T= XP_005259981.1:p.Cys251=
NM_000435.3:c.751T= MANE Select NP_000426.2:p.Cys251=